Variant report

Variant	rs3922385
Chromosome Location	chr1:222946204-222946205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11490204	0.88[ASN][1000 genomes]
rs17474556	0.86[ASN][1000 genomes]
rs17533651	0.82[CHB][hapmap]
rs2936025	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs3008611	0.85[JPT][hapmap]
rs3008613	0.85[JPT][hapmap]
rs3008635	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs3008639	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs34290674	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs34807177	0.88[ASN][1000 genomes]
rs34992407	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35554894	0.86[ASN][1000 genomes]
rs4303078	0.91[ASN][1000 genomes]
rs4472762	0.88[ASN][1000 genomes]
rs61826471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61837145	0.93[ASN][1000 genomes]
rs61837146	0.93[ASN][1000 genomes]
rs73126825	0.93[ASN][1000 genomes]
rs73126839	0.95[ASN][1000 genomes]
rs73126856	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3369664	chr1:222935606-222958164	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222942800-222951400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:222944800-222947200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:222944800-222947200	Enhancers	Fetal Thymus	thymus
4	chr1:222945000-222947600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:222945200-222946400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:222945200-222946400	Active TSS	Brain Anterior Caudate	brain
7	chr1:222945200-222946400	Flanking Active TSS	Dnd41	blood
8	chr1:222945200-222946400	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:222945200-222946600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:222945200-222946800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:222945600-222946400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:222945600-222946600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr1:222945800-222946600	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:222945800-222946800	Enhancers	Thymus	Thymus
15	chr1:222945800-222947000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:222945800-222947200	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:222946000-222946400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:222946000-222946400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr1:222946000-222946600	Flanking Active TSS	Fetal Lung	lung
20	chr1:222946000-222946800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:222946000-222947000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:222946200-222946600	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:222946200-222946600	Enhancers	NHDF-Ad	bronchial
24	chr1:222946200-222946800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:222946200-222947000	Enhancers	Primary T cells from cord blood	blood
26	chr1:222946200-222947000	Active TSS	Fetal Brain Male	brain
27	chr1:222946200-222947200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:222946200-222947200	Enhancers	Fetal Muscle Leg	muscle
29	chr1:222946200-222947200	Enhancers	HSMMtube	muscle
30	chr1:222946200-222947400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:222946200-222948800	Enhancers	Primary B cells from peripheral blood	blood

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